Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Congenital absence of germinal epithelium of testes
disease Male Urogenital Diseases Congenital Abnormality 48 4 0.200 1 2000 2000
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 335 923 0.100 1 1 2017 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
phenotype Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 153 58 0.020 0.500 2 1 2008 2013
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 174 68 0.020 0.500 2 1 2008 2013
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 79 86 0.010 1.000 1 2000 2000
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 1936 180 0.010 1.000 1 2016 2016
CUI: C0342510
Disease: Ovarian dysgenesis
Ovarian dysgenesis
disease Congenital Abnormality 10 1 0.010 1.000 1 2015 2015